Varaico: Literature-Extracted Genetic Variants

Gene:RIPOR2
Variant:p.L584_G587del4
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RIPOR2

NM_014722.5:p.L584_G587del4

Associated Papers

A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.

de Bruijn SE et al.

Journal of Medical Genetics, 2020

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."